PDB
MCID: PGT001
MIFTS: 72

Paget's Disease of Bone (PDB) malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Paget's Disease of Bone

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9Disease Ontology, 44NIH Rare Diseases, 35MedlinePlus, 48OMIM, 34MalaCards
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MedlinePlus:35 Paget's disease of bone causes your bones to grow too large and weak. they also might break easily. the disease can lead to other health problems, too, such as arthritis and hearing loss. you can have paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. the disease might affect one or several bones, but not your entire skeleton. more men than women have the disease. it is most common in older people. no one knows what causes paget's disease. in some cases, a virus might be responsible. it tends to run in families. many people do not know they have paget's disease because their symptoms are mild. for others, symptoms can include pain enlarged bones broken bones damaged cartilage in joints doctors use blood tests and imaging tests to diagnose paget's disease. early diagnosis and treatment can prevent some symptoms from getting worse. treatments include medicines and sometimes surgery. a good diet and exercise might also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Paget's Disease of Bone, also known as paget disease of bone, is related to frontotemporal dementia and dementia. An important gene associated with Paget's Disease of Bone is SQSTM1 (sequestosome 1), and among its related pathways are Osteoblast Signaling and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs calcitonin and salmon calcitonin and the compounds pyridinoline and calcium gluconate have been mentioned in the context of this disorder. Affiliated tissues include skull, pelvis and set of limbs, and related mouse phenotypes are limbs/digits/tail and integument.

Disease Ontology:9 A bone formation disease that has material basis in hyperactive osteoclast which results in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs.

NIH Rare Diseases:44 Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. this condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. the disease may affect only one bone or several bones; but it does not affect the entire skeleton. bones with paget disease may break more easily, and the disease can lead to other health problems. the cause of paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. last updated: 12/12/2011

Description from OMIM:48 602080

Aliases & Classifications for Paget's Disease of Bone

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9Disease Ontology, 22Genetics Home Reference, 35MedlinePlus, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 23GTR, 63UMLS, 11DISEASES, 46Novoseek, 41NCIt, 59SNOMED-CT, 36MeSH, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

paget's disease of bone 9 22 35
paget disease of bone 9 10 44 21 22 48
osteitis deformans 9 44 23 22 63
osseous paget's disease 9 22
pdb 44 22
pagets disease of bone 11
paget's bone disease 9
paget disease, bone 22
pagets bone disease 46


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Disease Ontology9 DOID:5408
NCIt41 C3292
OMIM48 602080
ICD1026 M88

Related Diseases for Paget's Disease of Bone

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18GeneCards, 19GeneDecks
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Diseases in the Paget's Disease of Bone family:

Paget Disease of Bone, Familial

Diseases related to Paget's Disease of Bone via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia31.1VCP, SQSTM1
2dementia31.0TNFRSF11B, VCP, SQSTM1
3paget disease, juvenile30.6TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
4mammary paget's disease30.5VCP, SQSTM1
5osteitis fibrosa30.4BGLAP
6osteosclerosis30.3TNFSF11, TNFRSF11B
7primary hyperparathyroidism30.2BGLAP, CALCA
8prostate cancer30.1BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
9osteoporosis30.1BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
10osteosarcoma30.1BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B
11hyperparathyroidism30.1CALCA, TNFRSF11B, TNFSF11, BGLAP
12breast cancer29.9TNFRSF11A, TNFSF11, TNFRSF11B, VCP, CALCA, SQSTM1
13myopathy10.7
14inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.5
15inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.5
16paget disease of bone, familial10.4
17angioid streaks10.4
18inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.3
19spastic paraplegia - paget disease of bone10.3
20iritis10.2
21prostatitis10.2
22retinitis10.2
23hemifacial spasm10.2
24limb-girdle muscular dystrophy10.1
25muscular dystrophy10.1
26giant cell reparative granuloma10.1CALCA, TNFRSF11A
27neuropathy10.1CALCA, GNE
28hypophosphatasia10.1
29nevus comedonicus syndrome10.1
30osteomyelitis10.1TNFSF11
31periapical granuloma10.1TNFSF11
32idiopathic juvenile osteoporosis10.0CALCA, BGLAP
33pseudohypoparathyroidism10.0CALCA, BGLAP
34amyotrophic lateral sclerosis10.0OPTN, SQSTM1, VCP
35hypoparathyroidism10.0BGLAP, CALCA
36hypophosphatemia10.0BGLAP, CALCA
37motor neuron disease10.0SQSTM1, VCP
38giant cell tumor10.0TNFSF11, CALCA
39cherubism10.0CALCA, TNFSF11
40synovitis10.0TNFSF11, TNFRSF11B
41aortic valve stenosis10.0TNFSF11, TNFRSF11B
42goiter10.0CALCA, BGLAP
43osteopetrosis autosomal dominant type 210.0TNFSF11, BGLAP
44gingivitis10.0TNFSF11, TNFRSF11B
45beta thalassemia10.0TNFSF11, TNFRSF11B
46psoriatic arthritis10.0TNFSF11, TNFRSF11B
47renal osteodystrophy10.0CALCA, TNFRSF11B, BGLAP
48secondary hyperparathyroidism of renal origin10.0CALCA, TNFRSF11B, BGLAP
49osteomalacia10.0BGLAP, TNFRSF11B, CALCA
50cushing's syndrome10.0BGLAP, TNFRSF11B, CALCA

Graphical network of the top 20 diseases related to Paget's Disease of Bone:



Diseases related to paget's disease of bone

Symptoms for Paget's Disease of Bone

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48OMIM
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Symptoms by clinical synopsis from OMIM:

602080

Clinical features from OMIM:

602080

Drugs & Therapeutics for Paget's Disease of Bone

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Paget's Disease of Bone

Drug clinical trials:

Search ClinicalTrials for Paget's Disease of Bone

Search NIH Clinical Center for Paget's Disease of Bone

Search CenterWatch for Paget's Disease of Bone

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Paget's Disease of Bone

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21GeneTests, 23GTR
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Genetic tests related to Paget's Disease of Bone:

id Genetic test Affiliating Genes
1 Paget Disease of Bone21 TNFRSF11A
2 Osteitis Deformans23

Anatomical Context for Paget's Disease of Bone

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Paget's Disease of Bone:

34
Bone, Testes, Skin, Bone marrow, Heart, Breast, Monocytes, Prostate

FMA organs/tissues related to Paget's Disease of Bone:

15
Skull, Pelvis, Set of limbs, Vertebral column

Animal Models for Paget's Disease of Bone or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Paget's Disease of Bone:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0VCP, TNFRSF11B, TNFSF11, TNFRSF11A
2MP:00107718.6TNFRSF11A, TNFSF11, VCP, CALCA, SQSTM1
3MP:00053908.3SQSTM1, CALCA, VCP, TNFRSF11B, TNFSF11, TNFRSF11A

Publications for Paget's Disease of Bone

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53PubMed
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Articles related to Paget's Disease of Bone:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
Paget's disease of bone. (24365317)
2014
2
Further evidence supporting a genetic background for Paget's disease of bone in Spain. (23350154)
2012
3
Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. (22796589)
2012
4
Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population. (21073987)
2011
5
Zoledronic acid-induced transient hepatotoxicity in a patient effectively treated for Paget's disease of bone. (20407889)
2011
6
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. (20436471)
2010
7
Multiple giant cell tumors in maxilla and skull complicating Paget's disease of bone. (21319038)
2010
8
Paget's disease of bone is not associated with common polymorphisms in interleukin-6, interleukin-8 and tumor necrosis factor alpha genes. (20709566)
2010
9
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. (20335036)
2010
10
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
11
Infiltrating giant cell tumor in a case of Paget's disease of bone. (20234860)
2009
12
The effect of zoledronic acid on serum dickkopf-1, osteoprotegerin, and RANKL in patients with Paget's disease of bone. (19670154)
2009
13
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone. (19067022)
2009
14
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone. (18543015)
2008
15
Zoledronic acid for treatment of Paget's disease of bone. (17956205)
2007
16
Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. (16831914)
2006
17
Paget's disease of bone. (17117306)
2006
18
Genetics of Paget's disease of bone. (16574459)
2006
19
Biochemical assessment of Paget's disease of bone. (17229003)
2006
20
Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. (16199218)
2006
21
(18)F-fluoride PET for monitoring therapeutic response in Paget's disease of bone. (16204715)
2005
22
Non-isomerized C-telopeptide fragments are highly sensitive markers for monitoring disease activity and treatment efficacy in Paget's disease of bone. (15765177)
2005
23
Increased arterial calcification in Paget's disease of bone. (16151674)
2005
24
Total knee arthroplasty in patients with Paget's disease of bone at the knee. (16139702)
2005
25
Low dose of oral alendronate decreases bone turnover in Japanese patients with Paget's disease of bone. (15981032)
2005
26
Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. (15647816)
2005
27
Endothelin-1 levels in patients with Paget's disease of bone. (16320159)
2005
28
Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone. (14997007)
2004
29
Paget's disease of bone. (15347275)
2004
30
Paget's disease of bone in patients younger than 40 years. (15043116)
2004
31
Giant cell tumor and Paget's disease of bone in one family: geographic clustering. (15123951)
2004
32
Paget's disease of bone: presentation, extent and response to bisphosphonates. (12405502)
2002
33
Diagnosis and treatment of Paget's disease of bone. (12046775)
2002
34
Paget's disease of bone: a disease of the osteoclast. (11705325)
2001
35
Paget's disease of bone: rheumatologic complications. (10321927)
1999
36
Treatment of patients with Paget's disease of bone. (10595863)
1999
37
A randomized, double-blind comparison of risedronate and etidronate in the treatment of Paget's disease of bone. Paget's Risedronate/Etidronate Study Group. (10335722)
1999
38
Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. (9626621)
1998
39
Current options for the treatment of Paget's disease of bone]. (8966189)
1996
40
Paget's disease of bone and unvaccinated dogs. (8830987)
1996
41
Hearing loss in Paget's disease of bone: evidence of auditory nerve integrity. (8579174)
1995
42
Efficacy and safety of drugs for Paget's disease of bone. (8573423)
1995
43
Paget's disease of bone. (7559686)
1995
44
Hearing loss in Paget's disease of bone: the relationship between pure-tone thresholds and mineral density of the cochlear capsule. (7607977)
1995
45
Treated Paget's disease of bone mimicking metastatic cancer. (7895443)
1995
46
Evaluation of the efficacy and safety of oral tiludronate in Paget's disease of bone. A double-blind, multiple-dosage, placebo-controlled study. (1642662)
1992
47
Paramyxovirus-like nuclear inclusions identical to those of Paget's disease of bone detected in giant cells of primary oxalosis. (1455692)
1992
48
Interleukin 6. A potential autocrine/paracrine factor in Paget's disease of bone. (1729280)
1992
49
Failure to detect paramyxovirus sequences in Paget's disease of bone using the polymerase chain reaction. (1805546)
1991
50
Alterations in vitamin D metabolites during treatment of Paget's disease of bone with calcitonin or etidronate. (2125401)
1990

Variations for Paget's Disease of Bone

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Paget's Disease of Bone:

65
id Symbol AA change Variation ID SNP ID
1SQSTM1p.Pro387LeuVAR_023592
2SQSTM1p.Pro392LeuVAR_023593rs104893941
3SQSTM1p.Ser399ProVAR_023594
4SQSTM1p.Met404ThrVAR_023595
5SQSTM1p.Met404ValVAR_023596
6SQSTM1p.Gly411SerVAR_023597
7SQSTM1p.Gly425ArgVAR_023598

Clinvar genetic disease variations for Paget's Disease of Bone:

1
id Gene Name Type Significance SNP ID Assembly Location
1TNFRSF11ATNFRSF11A, 27-BP DUP, NT75duplicationPathogenic
2SQSTM1NM_001142298.1(SQSTM1): c.923C> T (p.Pro308Leu)single nucleotide variantPathogenicrs104893941GRCh37Chr 5, 179263445: 179263445
3SQSTM1SQSTM1, 1-BP INS, 1224TinsertionPathogenic
4SQSTM1SQSTM1, IVS7, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Paget's Disease of Bone

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paget's Disease of Bone

Search GEO for disease gene expression data for Paget's Disease of Bone.

Pathways for genes affiliated with Paget's Disease of Bone

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Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 5Cell Signaling Technology, 54QIAGEN, 56Reactome, 58SinoBiological, 55R&D Systems, 31KEGG
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Pathways related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TNFRSF11B, TNFSF11
29.5TNFSF11, BGLAP
39.5SQSTM1, TNFSF11, TNFRSF11A
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway61
9.5TNFRSF11A, TNFSF11, SQSTM1
5
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
9.3TNFRSF11B, TNFSF11, TNFRSF11A
6
Show member pathways
9.3TNFRSF11A, TNFSF11, TNFRSF11B
79.3TNFRSF11A, TNFSF11, TNFRSF11B
8
Show member pathways
9.3TNFRSF11B, TNFSF11, TNFRSF11A
9
Show member pathways
RANKL/RANK Signaling Pathway39
Apoptosis and survival APRIL and BAFF signaling61
9.0TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
109.0SQSTM1, TNFRSF11B, TNFSF11, TNFRSF11A
118.5CALCA, TNFRSF11B, TNFSF11, TNFRSF11A, BGLAP

Compounds for genes affiliated with Paget's Disease of Bone

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Sources:
46Novoseek, 62Tocris Bioscience, 12DrugBank, 25HMDB, 52PharmGKB, 3BitterDB, 30IUPHAR
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Compounds related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1pyridinoline4610.1TNFRSF11B, CALCA
2calcium gluconate4610.1BGLAP, CALCA
3ipriflavone4610.1BGLAP, CALCA
424,25-dihydroxyvitamin d34610.0BGLAP, CALCA
5alfacalcidol46 62 1212.0BGLAP, CALCA
6strontium ranelate4610.0TNFSF11, CALCA
7nandrolone decanoate46 1211.0BGLAP, CALCA
8deflazacort4610.0BGLAP, TNFRSF11B
9hcc-1469.9TNFRSF11B, TNFSF11
10laccer469.9TNFRSF11A, TNFSF11
11calcium carbonate469.8BGLAP, CALCA
12etidronate469.7CALCA, TNFRSF11B, BGLAP
13thiazide469.7CALCA, BGLAP
14polyethylene469.7TNFRSF11B, TNFSF11, TNFRSF11A
15hydroxyproline46 25 1211.6BGLAP, TNFRSF11B, CALCA
16pmma469.6CALCA, TNFRSF11B, TNFSF11
17sodium fluoride469.6CALCA, BGLAP
18tartrate469.6BGLAP, TNFSF11, CALCA
19gp 130469.6TNFRSF11B, TNFSF11, TNFRSF11A
20titanium469.5TNFRSF11B, TNFSF11, BGLAP
21ns 39846 6210.5TNFRSF11B, TNFSF11, BGLAP
22infliximab46 52 1211.4TNFRSF11B, TNFSF11, BGLAP
23denosumab46 1210.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
24hydrocortisone46 3 62 1212.4CALCA, TNFRSF11B, BGLAP
25procollagen469.4TNFRSF11B, TNFSF11, BGLAP
26azathioprine46 3 52 1212.3TNFRSF11B, TNFSF11, BGLAP
27hydroxyapatite469.2BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B
28teriparatide46 1210.2BGLAP, TNFSF11, TNFRSF11B, CALCA
29ibandronate46 1210.2BGLAP, TNFSF11, TNFRSF11B, CALCA
30vitamin k2469.2CALCA, TNFRSF11B, TNFSF11, BGLAP
31pamidronate46 52 1211.2BGLAP, TNFSF11, TNFRSF11B, CALCA
32risedronate46 52 30 62 1213.2CALCA, TNFRSF11B, TNFSF11, BGLAP
33clodronate46 52 1211.2BGLAP, TNFSF11, TNFRSF11B, CALCA
34deoxypyridinoline469.2BGLAP, TNFSF11, TNFRSF11B, CALCA
35zoledronic acid469.2BGLAP, TNFSF11, TNFRSF11B, CALCA
36alendronate46 52 1211.2BGLAP, TNFSF11, TNFRSF11B, CALCA
3725-hydroxyvitamin d469.2BGLAP, TNFSF11, TNFRSF11B, CALCA
38phosphorus469.2BGLAP, TNFSF11, TNFRSF11B, CALCA
39vitamin d469.1CALCA, TNFRSF11B, TNFSF11, BGLAP
40thyroxine46 2510.0CALCA, TNFRSF11B, BGLAP
41cyclosporin a46 30 6211.0CALCA, TNFRSF11B, TNFSF11, BGLAP
42raloxifene46 52 30 1212.0BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
431,25 dihydroxy vitamin d3468.9BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
44calcitriol46 62 25 1211.9BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
45pge2468.9BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
46vegf468.8BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
47dexamethasone46 52 30 1211.8BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, OPTN
48creatinine468.8BGLAP, TNFSF11, TNFRSF11B, CALCA
49estrogen468.6BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
50serine468.5BGLAP, TNFRSF11A, TNFSF11, TNFRSF11B, VCP, SQSTM1

GO Terms for genes affiliated with Paget's Disease of Bone

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17Gene Ontology
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Biological processes related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:0718489.9TNFRSF11A, TNFSF11
2TNFSF11-mediated signaling pathwayGO:0718479.8TNFRSF11A, TNFSF11
3positive regulation of fever generation by positive regulation of prostaglandin secretionGO:0718129.8TNFRSF11A, TNFSF11
4negative regulation of bone resorptionGO:0457799.7CALCA, TNFRSF11B
5tumor necrosis factor-mediated signaling pathwayGO:0332099.7TNFSF11, TNFRSF11A
6mammary gland alveolus developmentGO:0607499.6TNFRSF11A, TNFSF11
7monocyte chemotaxisGO:0025489.6CALCA, TNFSF11, TNFRSF11A
8osteoclast differentiationGO:0303169.4TNFSF11, TNFRSF11A

Products for genes affiliated with Paget's Disease of Bone

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Sources for Paget's Disease of Bone

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet